Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: Postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 67, Issue 3, 2003, Pages 149-153

  Digilio, Maria Cristina ^a   Marino, Bruno ^b   Giannotti, Aldo ^a   Dallapiccola, Bruno ^b,c   Opitz, John M ^d,e  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d PRIMARY CHILDREN'S MEDICAL CENTER   (United States)

^e CATHOLIC UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; SONIC HEDGEHOG PROTEIN;

ANTEVERTED NOSTRIL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CATARACT; CHOLESTEROL METABOLISM; CHOLESTEROL SYNTHESIS; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; DIAGNOSTIC IMAGING; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; FACE MALFORMATION; FEMALE; FOLLOW UP; HEART LEFT RIGHT SHUNT; HEART SURGERY; HETEROTAXY SYNDROME; HUMAN; HYPOSPADIAS; IMAGE ANALYSIS; INBORN ERROR OF METABOLISM; INFANT; LUNG VEIN DRAINAGE ANOMALY; MICROGNATHIA; MUSCLE HYPOTONIA; POLYDACTYLY; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; PTOSIS; PULMONARY VEIN MALFORMATION; SMITH LEMLI OPITZ SYNDROME; SYMPTOM;

CONSANGUINITY; DEHYDROCHOLESTEROLS; ECHOCARDIOGRAPHY; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HEART DEFECTS, CONGENITAL; HEDGEHOG PROTEINS; HUMANS; INFANT; MALE; POLYDACTYLY; SITUS INVERSUS; SMITH-LEMLI-OPITZ SYNDROME; TRANS-ACTIVATORS;

ERINACEIDAE;

EID: 0141891471     PISSN: 15420752     EISSN: None     Source Type: Journal    
DOI: 10.1002/bdra.10010     Document Type: Article

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